Other congenital malformations of nervous system

Q17_OTHER_CONGEN_MALFO_NERVOUS_SYSTEM

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

473681

1. Apply sex-specific rule

None

473681

2. Check conditions

None

473681

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • Hospital discharge: ICD-10 Q07
  • Cause of death: ICD-10 Q07

2 out of 7 registries used, show all original rules.

330

4. Check minimum number of events

None

330

5. Include endpoints

None

330

6. Filter based on genotype QC (FinnGen only)

320

Control definitions (FinnGen only)

Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF4
Parent code in ICD-10 Q0
Name in latin Aliae malformationes congenitae systematis nervosi

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 3361 2035 1322
Only index persons 2889 1839 1050
Unadjusted period prevalence (%)
Whole population 0.05 0.06 0.04
Only index persons 0.06 0.07 0.04
Median age at first event (years)
Whole population 19.42 24.31 11.87
Only index persons 23.03 27.09 15.91

-FinnGen-

Key figures

All Female Male
Number of individuals 320 259 61
Unadjusted period prevalence (%) 0.09 0.10 0.03
Median age at first event (years) 32.02 32.16 31.43

-FinRegistry-

Age distribution of first events

-FinnGen-

Age distribution of first events

-FinRegistry-

Year distribution of first events

-FinnGen-

Year distribution of first events

-FinRegistry-

Cumulative Incidence Function

-FinnGen-

Cumulative Incidence Function

No data

Mortality – FinRegistry

Association

Association between endpoint Q17_OTHER_CONGEN_MALFO_NERVOUS_SYSTEM and mortality.

Females

Parameter HR [95% CI] p-value
Q17_OTHER_CONGEN_MALFO_NERVOUS_SYSTEM 1.466 [1.11, 1.94] 0.008
Birth year 1.002 [0.99, 1.01] 0.727

During the follow-up period (1.1.1998 — 31.12.2019), 59 out of 1703 females with Q17_OTHER_CONGEN_MALFO_NERVOUS_SYSTEM died.

Males

Parameter HR [95% CI] p-value
Q17_OTHER_CONGEN_MALFO_NERVOUS_SYSTEM 2.062 [1.43, 2.98] < 0.001
Birth year 0.987 [0.98, 1.0] 0.006

During the follow-up period (1.1.1998 — 31.12.2019), 52 out of 1152 males with Q17_OTHER_CONGEN_MALFO_NERVOUS_SYSTEM died.

Mortality risk

Mortality risk for people of age

years, who have Q17_OTHER_CONGEN_MALFO_NERVOUS_SYSTEM.

N-year risk Females Males
1 0.184% 0.435%
5 1.029% 2.466%
10 2.689% 5.886%
15 4.951% 11.231%
20 8.946% 18.364%

Relationships between endpoints

Index endpoint: Q17_OTHER_CONGEN_MALFO_NERVOUS_SYSTEM – Other congenital malformations of nervous system

GWS hits: -

Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
Extremity
rg [CI]
Extremity
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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